A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

BACKGROUND: Desminopathy, a hereditary myofibrillar myopathy, mainly results from the desmin gene (DES) mutations. Desminopathy involves various phenotypes, mainly including different cardiomyopathies, skeletal myopathy, and arrhythmia. Combined with genotype, it helps us precisely diagnose and trea...

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Detalles Bibliográficos
Autores principales: Fan, Peng, Lu, Chao-Xia, Dong, Xue-Qi, Zhu, Di, Yang, Kun-Qi, Liu, Ke-Qiang, Zhang, Di, Zhang, Ying, Meng, Xu, Tan, Hui-Qiong, Yu, Li-Tian, Dou, Ke-Fei, Liu, Ya-Xin, Zhang, Xue, Zhou, Xian-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365268/
https://www.ncbi.nlm.nih.gov/pubmed/30614851
http://dx.doi.org/10.1097/CM9.0000000000000001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365268/
https://www.ncbi.nlm.nih.gov/pubmed/30614851
http://dx.doi.org/10.1097/CM9.0000000000000001

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